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单词 Phosphofructokinase deficiency
释义

Phosphofructokinase deficiency

英语百科

Phosphofructokinase deficiency

Glycogen deposits in the muscle of a human patient, shown by electron microscopy. The presence of this excess glycogen in muscle tissue is a result of phosphofructokinase deficiency[18]

Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease, is a muscular metabolic disorder, with an autosomal recessive inheritance pattern.

It may affect humans as well as other mammals (especially dogs). In humans it is the least common type of glycogen storage disease. It was named after the Japanese Physician, Seiichiro Tarui (1927- ) who first observed the condition in 1965.

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更新时间:2025/6/20 2:43:51